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Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
BACKGROUND: Assessment of the penetrance of disease-causing mutations is extremely important for developing clinical applications of gene discovery, such as genetic testing and counseling. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) have been identified in about 50% of families w...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Academy of Neurology
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2652575/ https://ncbi.nlm.nih.gov/pubmed/18711109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000323926.77565.ee |
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